Associated Papers
Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson's Disease.
Epifane-de-Assunção MC et al.
Molecular Neurobiology, 2025
Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings.
Oikarainen J et al.
Mitochondrion, 2025
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT et al.
Journal of Inherited Metabolic Disease, 2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Blickhäuser B et al.
Brain : a Journal of Neurology, 2024
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases.
Wang S et al.
Molecules (basel, Switzerland), 2022
The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblasts.
Bulthuis EP et al.
Free Radical Biology & Medicine, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.
Hewson S et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2018
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
A mutation in the PSST homologue of complex I (NADH:ubiquinone oxidoreductase) from Tetranychus urticae is associated with resistance to METI acaricides.
Bajda S et al.
Insect Biochemistry and Molecular Biology, 2017
Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.
Theunissen TEJ et al.
Frontiers in Molecular Neuroscience, 2017
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Koene S et al.
Journal of Inherited Metabolic Disease, 2012
Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis.
Voets AM et al.
Biochimica Et Biophysica Acta, 2012
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A et al.
American Journal of Human Genetics, 2009
Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays.
Willis JH et al.
Biochimica Et Biophysica Acta, 2009
The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency.
Distelmaier F et al.
Journal of Molecular Medicine (berlin, Germany), 2009
Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency.
Willems PH et al.
Cell Calcium, 2008
Superoxide production is inversely related to complex I activity in inherited complex I deficiency.
Verkaart S et al.
Biochimica Et Biophysica Acta, 2007
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.
Janssen AJ et al.
Clinical Chemistry, 2006
Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency.
Visch HJ et al.
Biochimica Et Biophysica Acta, 2006
Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism.
Morava E et al.
Biology of the Neonate, 2006
Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency.
Koopman WJ et al.
American Journal of Physiology. Cell Physiology, 2005
Neurospora strains harboring mitochondrial disease-associated mutations in iron-sulfur subunits of complex I.
Duarte M et al.
Genetics, 2005
Genetic variants of Complex I in multiple sclerosis.
Vyshkina T et al.
Journal of the Neurological Sciences, 2005
Application of the yeast Yarrowia lipolytica as a model to analyse human pathogenic mutations in mitochondrial complex I (NADH:ubiquinone oxidoreductase).
Kerscher S et al.
Biochimica Et Biophysica Acta, 2004
Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.
Visch HJ et al.
The Journal of Biological Chemistry, 2004
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
Bénit P et al.
Human Genetics, 2003
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.
Petruzzella V et al.
Human Molecular Genetics, 2001
Respiratory chain complex I deficiency.
Triepels RH et al.
American Journal of Medical Genetics, 2001
Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyse Leigh syndrome mutations in the complex I core subunits PSST and TYKY.
Ahlers PM et al.
Biochimica Et Biophysica Acta, 2000
Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?
Sue CM et al.
Brain Pathology (zurich, Switzerland), 2000
Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration.
Di Donato S
Journal of Inherited Metabolic Disease, 2000
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Loeffen JL et al.
Human Mutation, 2000
Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.
Rubio-Gozalbo ME et al.
Human Mutation, 2000
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
Triepels RH et al.
Annals of Neurology, 1999
Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.
Koopman WJ et al.
Biochimica Et Biophysica Acta, 0